NF1 Update Finally Got Her In For An Appt

8 Replies
LollyM - February 8

As some of you know, I was trying for some time to get Ava in to see an NF1 specialist, well we finally got in on the 5th of feb and everything turned out pretty well. I went with my best friend because dh had to work and on the whole way over, I was telling her about all the horrible symptoms that my baby could have as a result of NF1. Well, after the doctor examined lo, he said that she does have NF1 based on the number of birthmarks she has and the fact that dh has it since it is genetic. This wasn't too hard to hear because we basically knew she had it based on those same facts. After that, however, I wasn't sure what to expect but the dr said that she is a perfectly healthy baby and has no signs of any fibroids or anything! She doesn't have to go back for two years! But she does have to have her eyes checked every year and her blood pressure checked just as a precaution. I was so relieved that she is healthy. The doctor assured me that most people with NF1 have perfectly healthy and normal lives, and it is pretty rare for there to be serious complecations. they do have to watch their salt intake though (but we should all do that anyway =) ) So anyway, I thought I would let everyone know what happened. =)


kellens mom - February 8

I am glad that she is doing so well! Thank you for sharing her good news.


Kara H. - February 8

Glad it went well. I'm in a big hurry trying to get out the door to go see the Ped (Max is still sick). Chris (hubby) is going to see the specialist in March. He has no bumps or lumps either, but he did just find out that he is pre-diabetic. He is gained a little weight, but is not fat at all (wears a 34 in. waist). So I don't know if that is related to the NF1 or not, but he is pretty young, slim, and healthy to already be pre-diabetic. I noticed a couple of days ago that Max has a discolored spot on his thigh. I'm hoping its just a bruise from me holding him while he wriggles during diaper changes. Its right where my thumb would be. Normally I would freak out if I had bruised my baby, but I would prefer it be a bruise instead of a CAL. Was Ava born with her CALs or did they appear later? Max is 6 months old.


Lisastar9 - February 8

Nice update.


Rabbits07 - February 8

LollyM, I'm glad to hear your lo is doing well. I was just wondering do you know the difference between the cafe' (?) spots and just normal birthmarks? I ask because when my oldest daughter was around 3 she started getting dark spots that were like a creamed coffee color. She started out with one on her arm and then got several more over the years...I think she now has around 4-5. The biggest is almost the size of a dime and is on her chest. Non eof them are symmetrical or raised. Our pedi had told us (this was many years ago) that it was just spots from exposure to the sun. No one in our family has ever been dx'ed with NF1 or anything. My dh however does have lumps all over his body. His dr. never ran any tests or anything, just told dh that they were fat lumps and to lay off the b___ter. My dh is not fat...he is 6'2 and weighs 235. He is actually considered overweight by the dr.'s standards, but to look at him he doesn't look it...he is also very muscular and I know muscle weighs more than fat. Anyways, it may just be fat lumps and dd's may just be sun spots, but I just wondered after reading a couple of your last posts if there might be something more. How do you know? Are there specific tests that they can do to dx or rule NF1 out? Does it exhibit by a certain age? I hate to bombard you with questions...just wondering.


Kara H. - February 8

Rabbits - NF1 can be a random thing or pa__sed down from a parent (but the random kind is heriditary for the offspring). Usually anyone with 6 or more CALs is strongly suspected of having NF1. More *most* people with NF1, life is completely normal. We didn't find out my hubby had it until I was reading Lolly's first thread 5 months ago and realized it sounded alot like my hubby - Max was 8wks old at the time. Two weeks later we had confirmation that Chris had it. I really freaked out. I was furious at my in-laws for not catching it when he was a child, I was terrible angry at the world that here after struggling thru several pregnancy losses and finally bringing home a baby that there could be something wrong with him. At the time my main concern is that there is a rare problem that NF1 children have where their shin bones are extremely brittle and break so easily they are usually amputated as toddlers. Max had REALLY bowed legs when he was born, so I was really upset over the possibility of that. Fortunately Max's bowing was just the normal newborn bowing from his in utero time of him being so long and my torso being so short. So far no signs of NF1 in Max, but I am watchin the spot on his thigh now...


LollyM - February 8

Hey everyone. Kara, I don't thing diabetes is related, just high blood pressure. Does max have several spots, or just that one? Ava has a larger spot that looks like a bruise on her lower back. We couldn't figure out what it was for the longest time, but the doctor told me that it is called a mongolian spot and is totally unrelated to NF1 but it is really common among babies of hispanic decent and it should fade over time. Ava is 1/8 to 1/4 hispanic (sounds weird, but we're not sure if dh's grandfather is from spain or mexico.. long story!) anyway, Is max hispanic at all? if it really looks like a bruise, Ava's didn't show up until she was about 2 months old or so. she is 6 months old now. Does he have any freckling around his armpits or groin? Or any other marks? Ava was born with 3 CALs, but more showed up over time as well as freckling under the arms and in the groin area. Rabbits, Cafe'-au-lait spots, means coffee with cream in french and they do look like coffee with cream. I believe the standard for NF1 is having more than 6 that are 1/4 inch before puberty and 3/4 inch or larger post puberty. These spots are usually on the torso, so they are not that noticeable to people who don't see the child in the nude. CAL spots aren't raised and look like regular birthmarks, just larger. If she has freckeling under her arms, or in her groin area where she doesn't get sun, than I would deff get it checked out some more. As for dh, because of his height, I would doubt that he has it because people with NF1 are typically a bit shorter than the general population, although there could be exceptions I'm sure. Does he have any spots bigger than 3/4 an inch? nearly 100% of people with NF1 do. NF1 is pa__sed down in about 50% of new cases, and it is a new mutation in the other 50%. It affects all races and s_xes equally and is the most common genetic disorder in America (I'm not sure about the rest of the world). NF1 is typically diagnosed when there are two or more symptoms of it in a patient. This includes, bumps, CAL spots, freckling and several other factors that you can find at This is a very good sight about NF1. There is also a dna test that can show the mutation (in gene 17) but I'm not sure how many doctors will actually do it. I'm not sure what age the spots normally show up, but I think it can very between infancy and older childhood. Kara H, I was afraid of the brittle bone thing too, but the doctor a__sured me that it is very rare, and usually not extreme. The worst that he had seen was a little girl who lived in Mexico and didn't get much health care, but complained of pain in her leg and walked with a bit of a limp. Anyway, I have to go, hubby is sick and wants me to pamper him lol. I hope I could answer some questions!


Kara H. - February 8

Max is my little latino bambino =)' Chris was adopted from Honduras as a baby and had his spots then, but their ped said his spots were mongolian. But his Christopher's case they were not mongolian spots - they were undiagnosed CALS. So Max is 50% latino from Chris and 50% pale and pasty from me. :) Max is much lighter than Chris was as a baby, but he was still darker than me with my summer tan when he was born - but I am really, really, pale. Chris is short - about 5'5". I'm even shorter at 5' even. When Max is older we will feeding Max lots of NON-organic beef hoping that some of the growth hormone that shoot those cows full of will help him out in the height department. I really hope he will get 5' 6" to 5' 8" since it is so hard on guys to be short.


LollyM - February 9

Aww, I'm extremely pale too! lol i think I look lighter than anyone in my fam because I don't have many freckles =) Dh is 1/2 portuguese and 1/2 mexican or spanish! he is at least 1/4 mexican though. He is not too short, he is 5 8 I'm just glad that he's taller than me! I'm pretty tall for a woman at 5 7. We have a friend who is 5 5 (he doesn't have NF though) and it is hard on him, poor guy. He is very handsome, but can't seem to keep a girl, so of course he blames his height lol im pretty sure that his height has nothing to do with it though! I never thought about using growth hormone in meat to help a person grow... lets hope it works!



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